DDX3Y

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1histamine secretion (GO:0001821)5.61540099
2positive regulation of interleukin-8 biosynthetic process (GO:0045416)4.94139149
3axon ensheathment in central nervous system (GO:0032291)4.68304385
4central nervous system myelination (GO:0022010)4.68304385
5fatty acid elongation (GO:0030497)4.57837895
6positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)4.54605164
7histamine transport (GO:0051608)4.30876683
8negative regulation of neurotransmitter secretion (GO:0046929)4.22732827
9regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)4.22050933
10regulation of T-helper 1 cell differentiation (GO:0045625)4.12094857
11response to muramyl dipeptide (GO:0032495)4.05281551
12positive regulation of interleukin-2 production (GO:0032743)4.01811085
13regulation of interleukin-8 biosynthetic process (GO:0045414)3.94540610
14positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)3.93607734
15CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)3.86416787
16T-helper cell differentiation (GO:0042093)3.86416787
17acrosome reaction (GO:0007340)3.85950869
18L-phenylalanine catabolic process (GO:0006559)3.83141771
19erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.83141771
20negative regulation of neurotransmitter transport (GO:0051589)3.71610192
21regulation of chemokine-mediated signaling pathway (GO:0070099)3.68423108
22regulation of interleukin-12 biosynthetic process (GO:0045075)3.67563069
23regulation of CD4-positive, alpha-beta T cell activation (GO:2000514)3.65487399
24response to peptidoglycan (GO:0032494)3.56501946
25establishment of protein localization to Golgi (GO:0072600)3.50083663
26presynaptic membrane assembly (GO:0097105)3.49157362
27regulation of sarcomere organization (GO:0060297)3.46376817
28positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.45235020
29microglial cell activation (GO:0001774)3.42542307
30regulation of interferon-alpha production (GO:0032647)3.41492388
31nucleotide transmembrane transport (GO:1901679)3.41460483
32glycerophospholipid catabolic process (GO:0046475)3.39427278
33positive regulation of interferon-alpha production (GO:0032727)3.37455715
34myelination (GO:0042552)3.34833119
35presynaptic membrane organization (GO:0097090)3.32253526
36positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.31012549
37axon ensheathment (GO:0008366)3.30950711
38ensheathment of neurons (GO:0007272)3.30950711
39alpha-beta T cell differentiation involved in immune response (GO:0002293)3.30000249
40alpha-beta T cell activation involved in immune response (GO:0002287)3.30000249
41T cell differentiation involved in immune response (GO:0002292)3.30000249
42artery smooth muscle contraction (GO:0014824)3.27215334
43positive regulation of B cell differentiation (GO:0045579)3.26064053
44retrograde transport, vesicle recycling within Golgi (GO:0000301)3.25973764
45negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.23460226
46negative regulation of T-helper cell differentiation (GO:0045623)3.23460226
47regulation of cytokine secretion involved in immune response (GO:0002739)3.21839994
48ER overload response (GO:0006983)3.21451919
49regulation of interleukin-2 production (GO:0032663)3.19844246
50regulation of heat generation (GO:0031650)3.19542118
51regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.18755259
52positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.16661346
53tryptophan metabolic process (GO:0006568)3.16427406
54modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.16381362
55positive regulation by organism of defense response of other organism involved in symbiotic interact3.16381362
56modulation by symbiont of host immune response (GO:0052553)3.16381362
57positive regulation by symbiont of host defense response (GO:0052509)3.16381362
58modulation by symbiont of host defense response (GO:0052031)3.16381362
59modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.16381362
60negative regulation of immunoglobulin mediated immune response (GO:0002890)3.14556309
61negative regulation of B cell mediated immunity (GO:0002713)3.14556309
62regulation of alpha-beta T cell differentiation (GO:0046637)3.14507222
63positive regulation of interleukin-10 production (GO:0032733)3.14446501
64response to redox state (GO:0051775)3.13718569
65regulation of T-helper cell differentiation (GO:0045622)3.13058154
66positive regulation of alpha-beta T cell differentiation (GO:0046638)3.12531018
67cellular extravasation (GO:0045123)3.12512032
68import into cell (GO:0098657)3.04989946
69regulation of hypersensitivity (GO:0002883)3.04531299
70regulation of germinal center formation (GO:0002634)3.03348952
71azole transport (GO:0045117)3.02479695
72positive regulation of chemokine biosynthetic process (GO:0045080)3.02045656
73negative regulation of interleukin-12 production (GO:0032695)3.01520011
74dopamine biosynthetic process (GO:0042416)3.01060070
75regulation of interleukin-4 production (GO:0032673)2.96833755
76erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.94568935
77L-phenylalanine metabolic process (GO:0006558)2.94568935
78response to pheromone (GO:0019236)2.94435407
79long-chain fatty acid biosynthetic process (GO:0042759)2.92046179
80lipopolysaccharide-mediated signaling pathway (GO:0031663)2.91044287
81myeloid leukocyte mediated immunity (GO:0002444)2.90002483
82creatine metabolic process (GO:0006600)2.88675088
83nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)2.87567485
84regulation of fever generation (GO:0031620)2.86079227
85positive regulation of gamma-delta T cell activation (GO:0046645)2.84122307
86regulation of interleukin-10 production (GO:0032653)2.83890928
87cholesterol biosynthetic process (GO:0006695)2.82976227
88regulation of metalloenzyme activity (GO:0048552)2.80820645
89positive regulation of alpha-beta T cell activation (GO:0046635)2.80488251
90positive regulation of interleukin-12 production (GO:0032735)2.79365130
91negative regulation of interleukin-1 beta production (GO:0032691)2.79311469
92regulation of alpha-beta T cell activation (GO:0046634)2.79116323
93positive regulation of T-helper cell differentiation (GO:0045624)2.78817046
94regulation of interferon-beta biosynthetic process (GO:0045357)2.77757006
95aromatic amino acid family catabolic process (GO:0009074)2.75574749
96positive regulation of heat generation (GO:0031652)2.75497877
97tonic smooth muscle contraction (GO:0014820)2.74586819
98neutrophil chemotaxis (GO:0030593)2.74392027
99germinal center formation (GO:0002467)2.73878078
100macrophage activation involved in immune response (GO:0002281)2.73749808
101regulation of heterotypic cell-cell adhesion (GO:0034114)2.73362724
102regulation of chemokine biosynthetic process (GO:0045073)2.72813136
103indolalkylamine metabolic process (GO:0006586)2.71896364
104CD4-positive, alpha-beta T cell differentiation (GO:0043367)2.71411281
105neutrophil migration (GO:1990266)2.66240130
106superoxide anion generation (GO:0042554)2.65588752
107histone H3-K36 demethylation (GO:0070544)2.65535057
108protein localization to Golgi apparatus (GO:0034067)2.65295655
109regulation of interleukin-12 production (GO:0032655)2.64839233
110long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.62987432
111negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.62842097
112cellular glucuronidation (GO:0052695)2.60504613
113positive regulation of acute inflammatory response (GO:0002675)2.59674182
114glucuronate metabolic process (GO:0019585)2.59343789
115uronic acid metabolic process (GO:0006063)2.59343789
116apical protein localization (GO:0045176)2.58979218
117cell wall macromolecule catabolic process (GO:0016998)2.58770876
118regulation of lipoprotein metabolic process (GO:0050746)2.58384892
119T cell migration (GO:0072678)2.55831485
120nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)2.53441624
121fatty-acyl-CoA biosynthetic process (GO:0046949)2.53331419
122positive regulation of interleukin-1 beta secretion (GO:0050718)2.53061776
123response to methylmercury (GO:0051597)2.52946145
124limb bud formation (GO:0060174)2.52462473
125regulation of B cell mediated immunity (GO:0002712)2.52137680
126oligodendrocyte differentiation (GO:0048709)2.51554725
127positive regulation of NF-kappaB import into nucleus (GO:0042346)2.51013296
128phagocytosis, engulfment (GO:0006911)2.50927174
129regulation of extracellular matrix disassembly (GO:0010715)2.50680092
130photoreceptor cell differentiation (GO:0046530)2.50142461
131eye photoreceptor cell differentiation (GO:0001754)2.50142461
132response to dietary excess (GO:0002021)2.49950517
133macrophage activation (GO:0042116)2.49330391
134regulation of interleukin-1 beta secretion (GO:0050706)2.48833415
135B cell mediated immunity (GO:0019724)2.48704845
136long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.48140421
137neutrophil mediated immunity (GO:0002446)2.47709696
138regulation of beta-amyloid formation (GO:1902003)2.47012382
139asymmetric protein localization (GO:0008105)2.46776670
140succinate metabolic process (GO:0006105)2.45759994
141negative regulation of JUN kinase activity (GO:0043508)2.45270044
142very long-chain fatty acid metabolic process (GO:0000038)2.43507730
143fatty-acyl-CoA metabolic process (GO:0035337)2.43062504
144neuron cell-cell adhesion (GO:0007158)2.42723211
145sterol biosynthetic process (GO:0016126)2.42545939
146iron ion import (GO:0097286)2.41633765
147coenzyme catabolic process (GO:0009109)2.40521027
148regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.35389129
149detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.34833815
150positive regulation of action potential (GO:0045760)2.33415069
151bile acid biosynthetic process (GO:0006699)2.33282922
152myelin maintenance (GO:0043217)2.32669291
153thioester biosynthetic process (GO:0035384)2.32330252
154acyl-CoA biosynthetic process (GO:0071616)2.32330252
155prostate gland growth (GO:0060736)2.31904293
156positive regulation of smooth muscle cell migration (GO:0014911)2.31407501
157negative regulation of synaptic transmission, GABAergic (GO:0032229)2.29358511
158nucleotide transport (GO:0006862)2.28158289
159neurotransmitter catabolic process (GO:0042135)2.26338818
160chondrocyte development (GO:0002063)2.26299539
161complement activation, alternative pathway (GO:0006957)2.25836884
162Golgi to plasma membrane protein transport (GO:0043001)2.24634117
163response to lipoprotein particle (GO:0055094)2.19533991
164substantia nigra development (GO:0021762)2.18953376
165protein targeting to Golgi (GO:0000042)2.18597990
166regulation of energy homeostasis (GO:2000505)2.18527257
167pyrimidine-containing compound transmembrane transport (GO:0072531)2.18339738
168negative regulation of protein localization to cell surface (GO:2000009)2.16219740
169transmission of nerve impulse (GO:0019226)2.15708088
170interleukin-6-mediated signaling pathway (GO:0070102)2.15069995
171branched-chain amino acid catabolic process (GO:0009083)2.14272952
172tyrosine metabolic process (GO:0006570)2.14269046
173negative regulation of Rho protein signal transduction (GO:0035024)2.14127061
174detection of calcium ion (GO:0005513)2.13051540
175thioester metabolic process (GO:0035383)2.11248642
176acyl-CoA metabolic process (GO:0006637)2.11248642
177acetyl-CoA metabolic process (GO:0006084)2.10289208
178negative regulation of exocytosis (GO:0045920)2.05361742
179regulation of cell communication by electrical coupling (GO:0010649)2.04992984
180indolalkylamine catabolic process (GO:0046218)2.04930539
181tryptophan catabolic process (GO:0006569)2.04930539
182indole-containing compound catabolic process (GO:0042436)2.04930539
183positive regulation of amino acid transport (GO:0051957)2.04002878
184protein K11-linked deubiquitination (GO:0035871)2.03996514
185regulation of collateral sprouting (GO:0048670)2.03899918
186virion attachment to host cell (GO:0019062)2.03541829
187adhesion of symbiont to host cell (GO:0044650)2.03541829
188phosphatidylethanolamine biosynthetic process (GO:0006646)2.03391192
189regulation of sequestering of triglyceride (GO:0010889)2.02928313
190nerve growth factor signaling pathway (GO:0038180)2.02473560
191positive regulation of glycolytic process (GO:0045821)2.00693629
192L-amino acid import (GO:0043092)2.00139292
193phosphatidylethanolamine metabolic process (GO:0046337)1.99885118
194cofactor catabolic process (GO:0051187)1.99095031
195short-term memory (GO:0007614)1.98934618
196regulation of amyloid precursor protein catabolic process (GO:1902991)1.97825821
197cellular biogenic amine catabolic process (GO:0042402)1.97321889
198amine catabolic process (GO:0009310)1.97321889

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human4.02441820
2GBX2_23144817_ChIP-Seq_PC3_Human3.51887175
3RBPJ_22232070_ChIP-Seq_NCS_Mouse3.27957966
4TAF15_26573619_Chip-Seq_HEK293_Human2.98264104
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.90545219
6KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.67164457
7KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.67164457
8KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.67164457
9IRF8_22096565_ChIP-ChIP_GC-B_Human2.58336521
10STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.51133601
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.47140969
12ZNF274_21170338_ChIP-Seq_K562_Hela2.38495369
13RUNX_20019798_ChIP-Seq_JUKART_Human2.36276398
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.27658688
15SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.26321250
16IGF1R_20145208_ChIP-Seq_DFB_Human2.20875210
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.18546246
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.12956674
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.08990656
20IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.08110305
21PIAS1_25552417_ChIP-Seq_VCAP_Human2.06515349
22OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.01762325
23AR_21572438_ChIP-Seq_LNCaP_Human1.97290053
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.97250949
25P300_19829295_ChIP-Seq_ESCs_Human1.88244863
26SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.86633584
27VDR_24787735_ChIP-Seq_THP-1_Human1.85651561
28IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.84519500
29SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.78581807
30WT1_19549856_ChIP-ChIP_CCG9911_Human1.78290869
31* MYB_26560356_Chip-Seq_TH2_Human1.75409098
32SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.75237396
33AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.74718524
34TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.72273692
35ER_23166858_ChIP-Seq_MCF-7_Human1.71847379
36IRF8_21731497_ChIP-ChIP_J774_Mouse1.71442554
37Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.71217800
38VDR_22108803_ChIP-Seq_LS180_Human1.70276032
39GATA1_22025678_ChIP-Seq_K562_Human1.66741763
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.65973764
41NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.65797599
42NRF2_20460467_ChIP-Seq_MEFs_Mouse1.65797599
43CTBP1_25329375_ChIP-Seq_LNCAP_Human1.64328426
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.64280018
45PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.63733896
46SMAD4_21799915_ChIP-Seq_A2780_Human1.61086031
47FUS_26573619_Chip-Seq_HEK293_Human1.60042500
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.58750126
49NFE2_27457419_Chip-Seq_LIVER_Mouse1.56730905
50MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.56172982
51SALL1_21062744_ChIP-ChIP_HESCs_Human1.56110720
52TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.55647964
53POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.55647964
54ZNF217_24962896_ChIP-Seq_MCF-7_Human1.55413653
55CTBP2_25329375_ChIP-Seq_LNCAP_Human1.54592290
56PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.54550416
57SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.54207538
58GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.53316108
59FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.51661668
60SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49936902
61FLI1_27457419_Chip-Seq_LIVER_Mouse1.49464669
62NOTCH1_21737748_ChIP-Seq_TLL_Human1.47177525
63SCL_19346495_ChIP-Seq_HPC-7_Human1.46369631
64CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.45886308
65FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.45696338
66EED_16625203_ChIP-ChIP_MESCs_Mouse1.45499295
67CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.45192564
68SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.45128457
69STAT3_23295773_ChIP-Seq_U87_Human1.43535663
70SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42907908
71ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.41894563
72TRIM28_21343339_ChIP-Seq_HEK293_Human1.41321792
73TOP2B_26459242_ChIP-Seq_MCF-7_Human1.40759515
74LXR_22158963_ChIP-Seq_LIVER_Mouse1.40652446
75SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.40362297
76STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.37063603
77MYB_21317192_ChIP-Seq_ERMYB_Mouse1.36972241
78NANOG_18555785_Chip-Seq_ESCs_Mouse1.35883623
79SALL4_22934838_ChIP-ChIP_CD34+_Human1.35629322
80UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.35059729
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.33615633
82TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.33027886
83JARID2_20064375_ChIP-Seq_MESCs_Mouse1.32536760
84NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.32175485
85MTF2_20144788_ChIP-Seq_MESCs_Mouse1.30393128
86NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29472769
87MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.29456497
88PCGF2_27294783_Chip-Seq_ESCs_Mouse1.29384712
89ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.28520663
90GATA3_26560356_Chip-Seq_TH2_Human1.28443862
91EP300_21415370_ChIP-Seq_HL-1_Mouse1.27517785
92NR3C1_21868756_ChIP-Seq_MCF10A_Human1.27475582
93EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.26738443
94AHR_22903824_ChIP-Seq_MCF-7_Human1.26640326
95SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.25526759
96SOX2_21211035_ChIP-Seq_LN229_Gbm1.25055884
97EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.24982772
98TCF4_23295773_ChIP-Seq_U87_Human1.24570130
99PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.24344720
100NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.23523727
101EZH2_18974828_ChIP-Seq_MESCs_Mouse1.23025430
102RNF2_18974828_ChIP-Seq_MESCs_Mouse1.23025430
103BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.22256779
104GATA3_27048872_Chip-Seq_THYMUS_Human1.22066379
105EZH2_27294783_Chip-Seq_NPCs_Mouse1.20703143
106BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.19818274
107AR_25329375_ChIP-Seq_VCAP_Human1.19230262
108EGR1_23403033_ChIP-Seq_LIVER_Mouse1.19094704
109FLI1_21867929_ChIP-Seq_TH2_Mouse1.18693385
110TP53_18474530_ChIP-ChIP_U2OS_Human1.18013461
111FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.16832380
112SUZ12_18555785_Chip-Seq_ESCs_Mouse1.16592907
113P53_22387025_ChIP-Seq_ESCs_Mouse1.16125267
114CMYC_18555785_Chip-Seq_ESCs_Mouse1.15807540
115E2F1_18555785_Chip-Seq_ESCs_Mouse1.15601906
116SUZ12_27294783_Chip-Seq_NPCs_Mouse1.14891174
117EZH2_27304074_Chip-Seq_ESCs_Mouse1.14295245
118* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.14002812
119PRDM14_20953172_ChIP-Seq_ESCs_Human1.13943062
120P300_18555785_Chip-Seq_ESCs_Mouse1.13843549
121CRX_20693478_ChIP-Seq_RETINA_Mouse1.13684988
122CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.13046466
123RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12740668
124VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.12400594
125RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.11831721
126MYB_26560356_Chip-Seq_TH1_Human1.11382503
127BCAT_22108803_ChIP-Seq_LS180_Human1.11156449
128FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.11050673
129PCGF2_27294783_Chip-Seq_NPCs_Mouse1.10522575
130RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.10183398
131RXR_22158963_ChIP-Seq_LIVER_Mouse1.08196394
132TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07733176
133CBP_20019798_ChIP-Seq_JUKART_Human1.07505893
134IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.07505893
135RUNX2_22187159_ChIP-Seq_PCA_Human1.07330764
136SMRT_27268052_Chip-Seq_Bcells_Human1.06547254
137TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06201643
138ESR1_20079471_ChIP-ChIP_T-47D_Human1.06061424
139OCT4_21477851_ChIP-Seq_ESCs_Mouse1.04820548
140HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.04292376
141FOXM1_26456572_ChIP-Seq_MCF-7_Human1.04181970
142STAT3_18555785_Chip-Seq_ESCs_Mouse1.04081449
143TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.02437730
144EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.02107175
145KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.01699209
146NANOG_19829295_ChIP-Seq_ESCs_Human1.01068552
147SOX2_19829295_ChIP-Seq_ESCs_Human1.01068552
148EWS_26573619_Chip-Seq_HEK293_Human1.00931748
149SOX2_18555785_Chip-Seq_ESCs_Mouse1.00440180
150CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.99754418
151SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.99180465
152SPI1_23547873_ChIP-Seq_NB4_Human0.97487334
153SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.96315155
154NMYC_18555785_Chip-Seq_ESCs_Mouse0.96291458
155IRF1_19129219_ChIP-ChIP_H3396_Human0.95983977
156GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.95783080

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation4.07097678
2MP0003724_increased_susceptibility_to3.93501130
3MP0002139_abnormal_hepatobiliary_system3.18622743
4MP0009780_abnormal_chondrocyte_physiolo3.02610108
5MP0003690_abnormal_glial_cell3.00494986
6MP0009278_abnormal_bone_marrow2.90816649
7MP0000920_abnormal_myelination2.82390399
8MP0003195_calcinosis2.82017855
9MP0005085_abnormal_gallbladder_physiolo2.68652234
10MP0001835_abnormal_antigen_presentation2.65145277
11MP0003880_abnormal_central_pattern2.56587626
12MP0002837_dystrophic_cardiac_calcinosis2.54896591
13MP0006082_CNS_inflammation2.52386140
14MP0002148_abnormal_hypersensitivity_rea2.41483043
15MP0000569_abnormal_digit_pigmentation2.39347425
16MP0003436_decreased_susceptibility_to2.39336982
17MP0002166_altered_tumor_susceptibility2.29437994
18MP0002006_tumorigenesis2.28476745
19MP0001545_abnormal_hematopoietic_system2.20830099
20MP0005397_hematopoietic_system_phenotyp2.20830099
21MP0000372_irregular_coat_pigmentation2.17897879
22MP0005646_abnormal_pituitary_gland2.17566882
23MP0008877_abnormal_DNA_methylation2.15725032
24MP0002876_abnormal_thyroid_physiology2.15659970
25MP0001800_abnormal_humoral_immune2.15493144
26MP0002254_reproductive_system_inflammat2.11068608
27MP0005000_abnormal_immune_tolerance2.06377516
28MP0002419_abnormal_innate_immunity2.04520909
29MP0000013_abnormal_adipose_tissue2.00992531
30MP0005365_abnormal_bile_salt1.99847515
31MP0005671_abnormal_response_to1.98446709
32MP0003172_abnormal_lysosome_physiology1.92948226
33MP0003806_abnormal_nucleotide_metabolis1.89513269
34MP0004270_analgesia1.88854470
35MP0001790_abnormal_immune_system1.88436625
36MP0005387_immune_system_phenotype1.88436625
37MP0002723_abnormal_immune_serum1.86842643
38MP0009785_altered_susceptibility_to1.86053633
39MP0005167_abnormal_blood-brain_barrier1.81195379
40MP0005360_urolithiasis1.81030303
41MP0002452_abnormal_antigen_presenting1.80663610
42MP0004883_abnormal_blood_vessel1.77253348
43MP0004134_abnormal_chest_morphology1.75996135
44MP0009697_abnormal_copulation1.75881122
45MP0005379_endocrine/exocrine_gland_phen1.75459862
46MP0009840_abnormal_foam_cell1.74821092
47MP0009764_decreased_sensitivity_to1.68076856
48MP0005025_abnormal_response_to1.67214191
49MP0005645_abnormal_hypothalamus_physiol1.66422301
50MP0002272_abnormal_nervous_system1.66080327
51MP0005464_abnormal_platelet_physiology1.65570139
52MP0006054_spinal_hemorrhage1.64508838
53MP0001905_abnormal_dopamine_level1.59667337
54MP0002064_seizures1.56979699
55MP0004043_abnormal_pH_regulation1.56513325
56MP0003950_abnormal_plasma_membrane1.54671537
57MP0002420_abnormal_adaptive_immunity1.54488916
58MP0004130_abnormal_muscle_cell1.54150803
59MP0001486_abnormal_startle_reflex1.53996061
60MP0001529_abnormal_vocalization1.53089658
61MP0001819_abnormal_immune_cell1.51278254
62MP0002132_abnormal_respiratory_system1.47854446
63MP0001986_abnormal_taste_sensitivity1.47638847
64MP0001661_extended_life_span1.47010927
65MP0002405_respiratory_system_inflammati1.45196279
66MP0001533_abnormal_skeleton_physiology1.43005686
67MP0005164_abnormal_response_to1.39156097
68MP0005310_abnormal_salivary_gland1.38759634
69MP0002009_preneoplasia1.37585167
70MP0009745_abnormal_behavioral_response1.37426941
71MP0005166_decreased_susceptibility_to1.36548897
72MP0004036_abnormal_muscle_relaxation1.36107980
73MP0001501_abnormal_sleep_pattern1.35669673
74MP0001299_abnormal_eye_distance/1.35567792
75MP0000003_abnormal_adipose_tissue1.35476297
76MP0008875_abnormal_xenobiotic_pharmacok1.35204394
77MP0000685_abnormal_immune_system1.34489186
78MP0008260_abnormal_autophagy1.32660466
79MP0003252_abnormal_bile_duct1.32294140
80MP0010368_abnormal_lymphatic_system1.30538850
81MP0001177_atelectasis1.28968093
82MP0002822_catalepsy1.26756707
83MP0003329_amyloid_beta_deposits1.24370245
84MP0002118_abnormal_lipid_homeostasis1.22864575
85MP0003656_abnormal_erythrocyte_physiolo1.22067374
86MP0005332_abnormal_amino_acid1.21331826
87MP0005535_abnormal_body_temperature1.20860034
88MP0003183_abnormal_peptide_metabolism1.20218537
89MP0003300_gastrointestinal_ulcer1.19506079
90MP0003122_maternal_imprinting1.19305418
91MP0008057_abnormal_DNA_replication1.18705797
92MP0009046_muscle_twitch1.17606998
93MP0004924_abnormal_behavior1.15243661
94MP0005386_behavior/neurological_phenoty1.15243661
95MP0002108_abnormal_muscle_morphology1.14225901
96MP0005171_absent_coat_pigmentation1.14149413
97MP0001440_abnormal_grooming_behavior1.14072132
98MP0003191_abnormal_cellular_cholesterol1.13396018
99MP0000716_abnormal_immune_system1.12652316
100MP0006276_abnormal_autonomic_nervous1.12319794
101MP0003635_abnormal_synaptic_transmissio1.12137044
102MP0002572_abnormal_emotion/affect_behav1.12133529
103MP0010155_abnormal_intestine_physiology1.11017297
104MP0002734_abnormal_mechanical_nocicepti1.10821848
105MP0002398_abnormal_bone_marrow1.10210839
106MP0008004_abnormal_stomach_pH1.08981265
107MP0003763_abnormal_thymus_physiology1.05637789
108MP0003634_abnormal_glial_cell1.05068198
109MP0002933_joint_inflammation1.03932362
110MP0004742_abnormal_vestibular_system1.03727259
111MP0001845_abnormal_inflammatory_respons1.02560674
112MP0000689_abnormal_spleen_morphology1.01921979
113MP0002063_abnormal_learning/memory/cond1.01886252
114MP0010329_abnormal_lipoprotein_level1.01351826
115MP0004145_abnormal_muscle_electrophysio0.99604765
116MP0002229_neurodegeneration0.98118052
117MP0002138_abnormal_hepatobiliary_system0.97917196
118MP0004147_increased_porphyrin_level0.97458639
119MP0001853_heart_inflammation0.97143820
120MP0000230_abnormal_systemic_arterial0.96749918
121MP0008469_abnormal_protein_level0.96559376
122MP0001963_abnormal_hearing_physiology0.91852024
123MP0001984_abnormal_olfaction0.91460062
124MP0004142_abnormal_muscle_tone0.89455409
125MP0005670_abnormal_white_adipose0.89195366
126MP0003632_abnormal_nervous_system0.88787516
127MP0000751_myopathy0.88661196
128MP0002295_abnormal_pulmonary_circulatio0.88348974
129MP0003633_abnormal_nervous_system0.88306661
130MP0000747_muscle_weakness0.87878908
131MP0005503_abnormal_tendon_morphology0.87351147
132MP0002909_abnormal_adrenal_gland0.87007545
133MP0003959_abnormal_lean_body0.86286678
134MP0001485_abnormal_pinna_reflex0.85897606
135MP0005174_abnormal_tail_pigmentation0.85701618
136MP0009250_abnormal_appendicular_skeleto0.85517767
137MP0000778_abnormal_nervous_system0.85157804
138MP0004885_abnormal_endolymph0.84253675
139MP0000604_amyloidosis0.83917632
140MP0005375_adipose_tissue_phenotype0.83179638
141MP0004947_skin_inflammation0.82887980
142MP0002722_abnormal_immune_system0.82882379
143MP0005409_darkened_coat_color0.81855629
144MP0002896_abnormal_bone_mineralization0.81805872
145MP0005058_abnormal_lysosome_morphology0.81712548
146MP0008438_abnormal_cutaneous_collagen0.81674704
147MP0003787_abnormal_imprinting0.81613837
148MP0004272_abnormal_basement_membrane0.81364956
149MP0004484_altered_response_of0.81167429
150MP0002067_abnormal_sensory_capabilities0.81013317
151MP0002429_abnormal_blood_cell0.80843959
152MP0002971_abnormal_brown_adipose0.80573792
153MP0002277_abnormal_respiratory_mucosa0.79393999
154MP0003631_nervous_system_phenotype0.78951534
155MP0002078_abnormal_glucose_homeostasis0.78662940
156MP0005408_hypopigmentation0.78646269
157MP0005334_abnormal_fat_pad0.78551386
158MP0001666_abnormal_nutrient_absorption0.78095184
159MP0000383_abnormal_hair_follicle0.77739798
160MP0005410_abnormal_fertilization0.77383644
161MP0010386_abnormal_urinary_bladder0.77222604
162MP0002998_abnormal_bone_remodeling0.77216717
163MP0000427_abnormal_hair_cycle0.76870474
164MP0002066_abnormal_motor_capabilities/c0.76448051
165MP0000371_diluted_coat_color0.76310938
166MP0003121_genomic_imprinting0.75637087
167MP0000249_abnormal_blood_vessel0.73798664
168MP0000343_altered_response_to0.73119224
169MP0009333_abnormal_splenocyte_physiolog0.67787746
170MP0009763_increased_sensitivity_to0.61896522
171MP0005367_renal/urinary_system_phenotyp0.60398072
172MP0000516_abnormal_urinary_system0.60398072
173MP0003646_muscle_fatigue0.59269697
174MP0001915_intracranial_hemorrhage0.57590346
175MP0000703_abnormal_thymus_morphology0.53586093
176MP0000465_gastrointestinal_hemorrhage0.53483664
177MP0000639_abnormal_adrenal_gland0.51884979
178MP0005390_skeleton_phenotype0.51141876

Predicted human phenotypes

RankGene SetZ-score
1Stomatitis (HP:0010280)4.84812138
2Spontaneous hematomas (HP:0007420)4.79859631
3Panhypogammaglobulinemia (HP:0003139)4.16198884
4Hypoplastic ischia (HP:0003175)4.15406567
5Epiphyseal dysplasia (HP:0002656)3.97904898
6Abnormality of the ischium (HP:0003174)3.86395558
7Recurrent bacterial skin infections (HP:0005406)3.75316188
8Spinal muscular atrophy (HP:0007269)3.72193172
9Stenosis of the external auditory canal (HP:0000402)3.64870716
10Degeneration of the lateral corticospinal tracts (HP:0002314)3.56975036
11Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.56975036
12Optic neuritis (HP:0100653)3.42839719
13Retrobulbar optic neuritis (HP:0100654)3.42839719
14Stomach cancer (HP:0012126)3.35878979
15Abnormal tarsal ossification (HP:0008369)3.34320888
16Pheochromocytoma (HP:0002666)3.34231245
17Arterial tortuosity (HP:0005116)3.28113680
18Abnormal delayed hypersensitivity skin test (HP:0002963)3.23074513
19Neurofibrillary tangles (HP:0002185)3.22851702
20Irregular epiphyses (HP:0010582)3.19105521
21Neuroendocrine neoplasm (HP:0100634)3.15186205
22Intrahepatic cholestasis (HP:0001406)3.11421552
23Vitreoretinal degeneration (HP:0000655)3.10244239
24Conjugated hyperbilirubinemia (HP:0002908)3.07004053
25Complement deficiency (HP:0004431)3.06200540
26Recurrent abscess formation (HP:0002722)3.03693847
27Barrel-shaped chest (HP:0001552)3.02228388
28Vascular tortuosity (HP:0004948)3.01124842
29Myositis (HP:0100614)3.00818729
30Abnormal rod and cone electroretinograms (HP:0008323)3.00123667
31Absent rod-and cone-mediated responses on ERG (HP:0007688)3.00033616
32Chronic otitis media (HP:0000389)2.96120495
33Hypoglycemic seizures (HP:0002173)2.95218525
34Protuberant abdomen (HP:0001538)2.94818779
35Abnormality of the prostate (HP:0008775)2.94504178
36Abnormal foot bone ossification (HP:0010675)2.94058866
37Arthropathy (HP:0003040)2.92920901
38Metaphyseal dysplasia (HP:0100255)2.89340106
39Chronic diarrhea (HP:0002028)2.80016719
40Bladder neoplasm (HP:0009725)2.72187112
41Bladder carcinoma (HP:0002862)2.72187112
42Encephalitis (HP:0002383)2.71965372
43Abnormality of T cell number (HP:0011839)2.69619045
44Orchitis (HP:0100796)2.68966228
45Elevated erythrocyte sedimentation rate (HP:0003565)2.68096727
46Small epiphyses (HP:0010585)2.65038877
47Hyperventilation (HP:0002883)2.64690195
48Atonic seizures (HP:0010819)2.62874101
49Hyperinsulinemic hypoglycemia (HP:0000825)2.62528511
50Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.58224340
51Abnormality of aromatic amino acid family metabolism (HP:0004338)2.58064359
52T lymphocytopenia (HP:0005403)2.56497647
53Recurrent gram-negative bacterial infections (HP:0005420)2.56217141
54Termporal pattern (HP:0011008)2.53752181
55Insidious onset (HP:0003587)2.53752181
56Osteomyelitis (HP:0002754)2.53748673
57Pancreatic islet-cell hyperplasia (HP:0004510)2.45535182
58Abolished electroretinogram (ERG) (HP:0000550)2.45412797
59Leukocytosis (HP:0001974)2.44270699
60Hematochezia (HP:0002573)2.43658327
61Disproportionate short-trunk short stature (HP:0003521)2.43403280
62Autoamputation (HP:0001218)2.42507453
63Abnormality of the corticospinal tract (HP:0002492)2.42457404
64Recurrent viral infections (HP:0004429)2.42132708
65Enlarged kidneys (HP:0000105)2.40604295
66Hypoglycemic coma (HP:0001325)2.40429418
67Cerebral hemorrhage (HP:0001342)2.40348161
68Recurrent skin infections (HP:0001581)2.40102726
69Mediastinal lymphadenopathy (HP:0100721)2.39680937
70Abnormality of the phalanges of the 2nd finger (HP:0009541)2.35799149
71Irregular vertebral endplates (HP:0003301)2.35062229
72Symptomatic seizures (HP:0011145)2.34573965
73Bell-shaped thorax (HP:0001591)2.34342307
74Decreased central vision (HP:0007663)2.33801841
75Abnormal hair whorl (HP:0010721)2.33540976
76Alveolar cell carcinoma (HP:0006519)2.31143379
77Abnormality of the vertebral endplates (HP:0005106)2.28664596
78Cerebral inclusion bodies (HP:0100314)2.28384823
79Neoplasm of the tracheobronchial system (HP:0100552)2.27910113
80Mutism (HP:0002300)2.27316098
81Keratoconjunctivitis (HP:0001096)2.27071985
82Vasculitis (HP:0002633)2.26559459
83Disinhibition (HP:0000734)2.24604173
84Keratoconjunctivitis sicca (HP:0001097)2.24152644
85Abnormality of incisor morphology (HP:0011063)2.22327239
86Abnormality of B cell number (HP:0010975)2.22274487
87Exercise-induced myalgia (HP:0003738)2.22261458
88Xanthomatosis (HP:0000991)2.21841139
89Delayed closure of the anterior fontanelle (HP:0001476)2.20808840
90Abnormality of the vitreous humor (HP:0004327)2.20344728
91Pulmonary embolism (HP:0002204)2.19660889
92Cupped ribs (HP:0000887)2.19491486
93Attenuation of retinal blood vessels (HP:0007843)2.16603034
94Episodic fever (HP:0001954)2.16479797
95Absent/shortened dynein arms (HP:0200106)2.14905937
96Dynein arm defect of respiratory motile cilia (HP:0012255)2.14905937
97Prolonged partial thromboplastin time (HP:0003645)2.14823895
98Sensory axonal neuropathy (HP:0003390)2.14327461
99Abnormality of eosinophils (HP:0001879)2.12426492
100Recurrent sinusitis (HP:0011108)2.12382982
101Hyperlipoproteinemia (HP:0010980)2.11414013
102Gingival bleeding (HP:0000225)2.10808109
103Agnosia (HP:0010524)2.10469353
104Abnormality of complement system (HP:0005339)2.09368544
105Autoimmune thrombocytopenia (HP:0001973)2.08530417
106Broad ribs (HP:0000885)2.07364312
107Meningitis (HP:0001287)2.06689013
108Delayed epiphyseal ossification (HP:0002663)2.05522975
109Pendular nystagmus (HP:0012043)2.04881988
110Eczematoid dermatitis (HP:0000976)2.03826297
111Hypophosphatemic rickets (HP:0004912)2.03612447
112Abnormality of T cells (HP:0002843)2.03321622
113Hyperglycemia (HP:0003074)2.02871931
114Gangrene (HP:0100758)2.02038565
115Muscle hypertrophy of the lower extremities (HP:0008968)1.99811301
116Abnormality of the lumbar spine (HP:0100712)1.99491348
117Eosinophilia (HP:0001880)1.99247318
118Enlarged epiphyses (HP:0010580)1.99165291
119Pulmonary infiltrates (HP:0002113)1.98636434
120Thrombophlebitis (HP:0004418)1.98329285
121Abnormality of male internal genitalia (HP:0000022)1.97887857
122Generalized myoclonic seizures (HP:0002123)1.97771896
123Viral hepatitis (HP:0006562)1.97629773
124Recurrent fungal infections (HP:0002841)1.96173870
125Azoospermia (HP:0000027)1.96148906
126Glomerulonephritis (HP:0000099)1.96137429
127Prostate neoplasm (HP:0100787)1.94152598
128Basal cell carcinoma (HP:0002671)1.93027188
129Deep venous thrombosis (HP:0002625)1.93017422
130Abnormal vertebral ossification (HP:0100569)1.92548857
131Autoimmune hemolytic anemia (HP:0001890)1.92522970
132Blue irides (HP:0000635)1.90373917
133Abnormality of T cell physiology (HP:0011840)1.89883584
134Amyloidosis (HP:0011034)1.89689915
135Abnormality of the femoral head (HP:0003368)1.89244027
136Agammaglobulinemia (HP:0004432)1.88169135
137Spontaneous abortion (HP:0005268)1.87747643
138Scanning speech (HP:0002168)1.87359927
139Abnormality of the intrinsic pathway (HP:0010989)1.86226971
140Abnormality of the common coagulation pathway (HP:0010990)1.85741834
141Mild short stature (HP:0003502)1.85116473
142Cerebral edema (HP:0002181)1.84588787
143Acute hepatic failure (HP:0006554)1.83504822
144Amyotrophic lateral sclerosis (HP:0007354)1.82840264
145Facial diplegia (HP:0001349)1.82282944
146Ketosis (HP:0001946)1.81128866
147Transitional cell carcinoma of the bladder (HP:0006740)1.80665299
148Increased IgM level (HP:0003496)1.80068055
149Increased CSF protein (HP:0002922)1.79969643
150Flat capital femoral epiphysis (HP:0003370)1.79632183
151Oligomenorrhea (HP:0000876)1.79576316
152Metaphyseal cupping (HP:0003021)1.79282198
153Orthostatic hypotension (HP:0001278)1.79129536
154Hypoplastic pelvis (HP:0008839)1.78918708
155IgG deficiency (HP:0004315)1.78906802
156Fair hair (HP:0002286)1.78735065
157Hemiplegia (HP:0002301)1.78280809
158Epidermoid cyst (HP:0200040)1.77702320
159Fat malabsorption (HP:0002630)1.77602993
160B lymphocytopenia (HP:0010976)1.76948037
161Arterial thrombosis (HP:0004420)1.76625079
162Absent speech (HP:0001344)1.76508463
163Epileptic encephalopathy (HP:0200134)1.76196592
164Intestinal atresia (HP:0011100)1.76136610
165Broad alveolar ridges (HP:0000187)1.75530284
166Abnormality of the pancreatic islet cells (HP:0006476)1.75386029
167Abnormality of endocrine pancreas physiology (HP:0012093)1.75386029
168Abnormal spermatogenesis (HP:0008669)1.74805613
169Abnormality of femoral epiphyses (HP:0006499)1.74526354
170Abnormality involving the epiphyses of the lower limbs (HP:0006500)1.74526354
171Recurrent cutaneous fungal infections (HP:0011370)1.73934216
172Chronic mucocutaneous candidiasis (HP:0002728)1.73934216
173Spastic gait (HP:0002064)1.73611323
174Anteriorly placed anus (HP:0001545)1.72263762
175Thickened helices (HP:0000391)1.71047400
176Systemic lupus erythematosus (HP:0002725)1.70788222
177Ketoacidosis (HP:0001993)1.68760062
178Acute encephalopathy (HP:0006846)1.67530916
179Metaphyseal irregularity (HP:0003025)1.67302984
180Abnormal gallbladder morphology (HP:0012437)1.66843307
181Osteoarthritis (HP:0002758)1.66269294
182Dysmetria (HP:0001310)1.66204735
183Aplasia involving bones of the upper limbs (HP:0009823)1.64681245
184Aplasia of the phalanges of the hand (HP:0009802)1.64681245
185Aplasia involving bones of the extremities (HP:0009825)1.64681245
186Hypothermia (HP:0002045)1.64677446
187Intention tremor (HP:0002080)1.63936719
188Onion bulb formation (HP:0003383)1.63807828
189Poor speech (HP:0002465)1.63615305
190Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.63440068
191Limb dystonia (HP:0002451)1.63027280
192Submucous cleft hard palate (HP:0000176)1.62617808
193Abnormal pupillary function (HP:0007686)1.60661658
194Acute necrotizing encephalopathy (HP:0006965)1.59744726

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK394.19519516
2CAMK1D3.86906189
3INSRR3.72438666
4OXSR13.29778640
5CASK3.13923535
6MAP4K12.52607593
7TEC2.42616878
8BRD42.30816240
9ACVR1B2.11409836
10WNK42.09538114
11PKN12.07555974
12NEK62.07546309
13AKT31.89826053
14EPHB11.84066541
15MET1.76662454
16BCR1.75795723
17FGFR21.64906133
18MATK1.64030428
19PRPF4B1.60185243
20IKBKB1.58261496
21FRK1.54369035
22MKNK21.53680433
23MST41.53389028
24WNK11.50956314
25CAMK2B1.49166248
26MAPK151.48121163
27PIK3CA1.47888795
28TGFBR21.44144760
29IKBKE1.38863013
30NLK1.36523818
31MAP3K141.33669440
32FGFR31.32482533
33BTK1.31908129
34JAK31.31483534
35CAMK2D1.31169543
36KIT1.30687051
37CHUK1.30123925
38TNIK1.29769837
39EIF2AK31.29470646
40NUAK11.29329590
41SGK2231.29232737
42SGK4941.29232737
43MAP4K21.28699454
44PNCK1.27349383
45TXK1.26092606
46ERBB41.26057216
47EPHA41.24228127
48SYK1.22376511
49PRKCE1.18321675
50PDK21.14907105
51BMPR21.14789901
52MAPKAPK51.14481289
53CAMK2G1.11420854
54PLK21.10412467
55OBSCN1.09487248
56LCK1.09018427
57FES1.07944054
58LYN1.04015015
59CSF1R1.03465661
60TBK11.02555036
61JAK11.01538561
62MAP3K130.98490905
63GRK70.98344309
64JAK20.97410158
65PAK30.97056734
66CAMK2A0.97025920
67MAPK70.96805200
68PHKG20.95842737
69PHKG10.95842737
70CDK60.94236750
71TIE10.92579939
72MYLK0.91761624
73BLK0.91168676
74MUSK0.90008195
75PIK3CG0.89961339
76BMPR1B0.89872660
77SGK20.87749977
78TYRO30.86896302
79BCKDK0.86285644
80TNK20.85751653
81MAP3K30.84946242
82ITK0.84657367
83MKNK10.84406605
84NME10.84244693
85IRAK40.83662579
86CAMK40.83501110
87ERBB30.83238281
88FGR0.83115887
89TYK20.82662723
90TAOK30.82610733
91PRKCQ0.80401719
92ZAP700.80126068
93IRAK10.78358249
94NTRK10.78257014
95RIPK40.78251572
96ZAK0.77608680
97MAP3K40.76992045
98CSNK1G30.74741476
99PRKCH0.73913538
100CSNK1A1L0.70492648
101UHMK10.70394992
102HCK0.70355447
103YES10.70347415
104DDR20.69848323
105GSK3A0.69207782
106CSNK1G10.68939473
107ROCK20.68917330
108MAP3K50.68653316
109EPHA30.68592969
110IRAK20.67522654
111STK38L0.67515668
112CSK0.66539772
113PBK0.63779706
114DYRK1A0.62583132
115PRKAA20.62190898
116CAMK1G0.61305544
117SGK30.59607519
118SIK20.59098829
119LIMK10.58726396
120ADRBK20.57600746
121NTRK30.57384751
122CDK50.56983578
123MAP2K40.56443781
124FGFR40.56274726
125STK240.56156889
126DYRK1B0.55873071
127ABL10.55733911
128CSNK1G20.54542955
129NEK90.54506737
130MAP2K70.54496203
131RPS6KA10.54287449
132PRKG10.53989911
133PDPK10.52162493
134PDK40.51989365
135PDK30.51989365
136RPS6KA40.51937555
137PIM10.51727362
138MAP3K70.50360538
139EGFR0.50199875
140PINK10.50145148
141CAMKK20.48958495
142LMTK20.48453567
143GRK10.47844625
144MAPK130.47806787
145PDGFRB0.47251962
146IGF1R0.46737411
147PRKACA0.46117283
148SGK10.45691228
149PRKACB0.45528624
150WNK30.45511598
151CAMK10.45337287
152IRAK30.44874687
153MAP2K20.44753550
154MAP3K20.44724081
155CDK190.44703775
156CDK30.44601355
157PRKCG0.44323793
158HIPK20.44119207
159MAPK120.43507604
160PDGFRA0.34725139
161MARK30.34447793
162MAPK10.32056166

Predicted pathways (KEGG)

RankGene SetZ-score
1NOD-like receptor signaling pathway_Homo sapiens_hsa046213.04021659
2Fatty acid elongation_Homo sapiens_hsa000622.82222107
3Sulfur metabolism_Homo sapiens_hsa009202.78365222
4Legionellosis_Homo sapiens_hsa051342.65459211
5Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.44348646
6Leishmaniasis_Homo sapiens_hsa051402.43366650
7Graft-versus-host disease_Homo sapiens_hsa053322.32744497
8Asthma_Homo sapiens_hsa053102.30789129
9Allograft rejection_Homo sapiens_hsa053302.28571125
10Propanoate metabolism_Homo sapiens_hsa006402.25340302
11Type I diabetes mellitus_Homo sapiens_hsa049402.24254635
12Primary bile acid biosynthesis_Homo sapiens_hsa001202.23140084
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.18166964
14Intestinal immune network for IgA production_Homo sapiens_hsa046722.17995398
15Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.14469194
16Osteoclast differentiation_Homo sapiens_hsa043802.12256681
17Primary immunodeficiency_Homo sapiens_hsa053402.08852271
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.07492825
19Toll-like receptor signaling pathway_Homo sapiens_hsa046202.05221268
20Hematopoietic cell lineage_Homo sapiens_hsa046402.03063542
21Steroid biosynthesis_Homo sapiens_hsa001002.01923760
22Butanoate metabolism_Homo sapiens_hsa006502.00833863
23Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.97162938
24Autoimmune thyroid disease_Homo sapiens_hsa053201.94145968
25Protein export_Homo sapiens_hsa030601.91774765
26NF-kappa B signaling pathway_Homo sapiens_hsa040641.91278889
27Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.89365757
28Tuberculosis_Homo sapiens_hsa051521.73615632
29TNF signaling pathway_Homo sapiens_hsa046681.73543748
30Nitrogen metabolism_Homo sapiens_hsa009101.68521927
31Maturity onset diabetes of the young_Homo sapiens_hsa049501.66241811
32Pertussis_Homo sapiens_hsa051331.64172253
33Histidine metabolism_Homo sapiens_hsa003401.54374420
34Jak-STAT signaling pathway_Homo sapiens_hsa046301.53342539
35Ether lipid metabolism_Homo sapiens_hsa005651.52710647
36Peroxisome_Homo sapiens_hsa041461.45260076
37Fatty acid metabolism_Homo sapiens_hsa012121.42906886
38Tryptophan metabolism_Homo sapiens_hsa003801.42859074
39Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.42802789
40Vitamin B6 metabolism_Homo sapiens_hsa007501.40723422
41Malaria_Homo sapiens_hsa051441.40339969
42T cell receptor signaling pathway_Homo sapiens_hsa046601.39770240
43Influenza A_Homo sapiens_hsa051641.39567708
44Fatty acid degradation_Homo sapiens_hsa000711.39155685
45Complement and coagulation cascades_Homo sapiens_hsa046101.37943642
46Transcriptional misregulation in cancer_Homo sapiens_hsa052021.35038251
47Oxidative phosphorylation_Homo sapiens_hsa001901.34481446
48Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.31797347
49Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.31624309
50RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.26389658
51African trypanosomiasis_Homo sapiens_hsa051431.24108272
52Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.22162924
53Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.22074731
54Measles_Homo sapiens_hsa051621.20947414
55Arginine biosynthesis_Homo sapiens_hsa002201.19981398
56Vibrio cholerae infection_Homo sapiens_hsa051101.18189829
57Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.18177300
58Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.15912979
59Tyrosine metabolism_Homo sapiens_hsa003501.15610668
60Antigen processing and presentation_Homo sapiens_hsa046121.15108576
61Starch and sucrose metabolism_Homo sapiens_hsa005001.14296041
62Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.13986871
63Steroid hormone biosynthesis_Homo sapiens_hsa001401.11847881
64Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.11809479
65Phenylalanine metabolism_Homo sapiens_hsa003601.11045923
66Collecting duct acid secretion_Homo sapiens_hsa049661.10461083
67Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.08845118
68B cell receptor signaling pathway_Homo sapiens_hsa046621.08393919
69Herpes simplex infection_Homo sapiens_hsa051681.07190131
70GABAergic synapse_Homo sapiens_hsa047271.06796216
71Sphingolipid metabolism_Homo sapiens_hsa006001.05707896
72beta-Alanine metabolism_Homo sapiens_hsa004101.05313587
73Fatty acid biosynthesis_Homo sapiens_hsa000611.02512128
74Toxoplasmosis_Homo sapiens_hsa051451.00877775
75Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.00516004
76Pyruvate metabolism_Homo sapiens_hsa006200.98882483
77PPAR signaling pathway_Homo sapiens_hsa033200.96044971
78AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.94471889
79Hepatitis B_Homo sapiens_hsa051610.93230591
80Arginine and proline metabolism_Homo sapiens_hsa003300.91725500
81HIF-1 signaling pathway_Homo sapiens_hsa040660.91724920
82Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.91367682
83Chemokine signaling pathway_Homo sapiens_hsa040620.91204744
84Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.90982124
85Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.90422313
86Prion diseases_Homo sapiens_hsa050200.88318251
87Cocaine addiction_Homo sapiens_hsa050300.87426944
88SNARE interactions in vesicular transport_Homo sapiens_hsa041300.86012115
89Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.84615072
90ABC transporters_Homo sapiens_hsa020100.84067648
91Salmonella infection_Homo sapiens_hsa051320.82649801
92Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.82095574
93Nicotine addiction_Homo sapiens_hsa050330.82057854
94Retinol metabolism_Homo sapiens_hsa008300.81547329
95Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.81487904
96Serotonergic synapse_Homo sapiens_hsa047260.80095128
97Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.78823262
98Chemical carcinogenesis_Homo sapiens_hsa052040.78220760
99Pentose and glucuronate interconversions_Homo sapiens_hsa000400.77742258
100Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.77671259
101Regulation of autophagy_Homo sapiens_hsa041400.77594191
102Morphine addiction_Homo sapiens_hsa050320.77467331
103Alzheimers disease_Homo sapiens_hsa050100.75862794
104Staphylococcus aureus infection_Homo sapiens_hsa051500.75855382
105ECM-receptor interaction_Homo sapiens_hsa045120.75649147
106Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.75167519
107Amphetamine addiction_Homo sapiens_hsa050310.73408498
108Parkinsons disease_Homo sapiens_hsa050120.72217541
109Insulin secretion_Homo sapiens_hsa049110.71821143
110Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71215848
111Other glycan degradation_Homo sapiens_hsa005110.71025765
112Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69944712
113Rheumatoid arthritis_Homo sapiens_hsa053230.68758468
114Renin secretion_Homo sapiens_hsa049240.68010328
115Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63097680
116Circadian rhythm_Homo sapiens_hsa047100.62895333
117Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.62720960
118Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.62250918
119FoxO signaling pathway_Homo sapiens_hsa040680.62098874
120Circadian entrainment_Homo sapiens_hsa047130.61303940
121Viral myocarditis_Homo sapiens_hsa054160.59771253
122Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.59287632
123Platelet activation_Homo sapiens_hsa046110.59182262
124Shigellosis_Homo sapiens_hsa051310.57880470
125Glutamatergic synapse_Homo sapiens_hsa047240.57655838
126Ovarian steroidogenesis_Homo sapiens_hsa049130.57078960
127Glycerophospholipid metabolism_Homo sapiens_hsa005640.57077422
128Synaptic vesicle cycle_Homo sapiens_hsa047210.55902728
129Long-term depression_Homo sapiens_hsa047300.55440670
130Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.54379986
131Dilated cardiomyopathy_Homo sapiens_hsa054140.52504032
132Dorso-ventral axis formation_Homo sapiens_hsa043200.51645205
133Olfactory transduction_Homo sapiens_hsa047400.50832155
134Vascular smooth muscle contraction_Homo sapiens_hsa042700.50297230
135Type II diabetes mellitus_Homo sapiens_hsa049300.50046943
136Phagosome_Homo sapiens_hsa041450.49072847
137Acute myeloid leukemia_Homo sapiens_hsa052210.48988083
138Linoleic acid metabolism_Homo sapiens_hsa005910.48874091
139Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.48609394
140Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.48135478
141Dopaminergic synapse_Homo sapiens_hsa047280.47955390
142Taste transduction_Homo sapiens_hsa047420.47881449
143Axon guidance_Homo sapiens_hsa043600.47160029
144Sphingolipid signaling pathway_Homo sapiens_hsa040710.46462944
145Protein digestion and absorption_Homo sapiens_hsa049740.46425502
146alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.45791938
147Bile secretion_Homo sapiens_hsa049760.45357198
148Hepatitis C_Homo sapiens_hsa051600.41394257
149MAPK signaling pathway_Homo sapiens_hsa040100.39229108
150Lysosome_Homo sapiens_hsa041420.39025624
151Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.38978475
152Apoptosis_Homo sapiens_hsa042100.38461436
153Vitamin digestion and absorption_Homo sapiens_hsa049770.37959283
154Glycerolipid metabolism_Homo sapiens_hsa005610.37495463
1552-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.37488409
156Prolactin signaling pathway_Homo sapiens_hsa049170.37366493
157Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36583005
158Metabolic pathways_Homo sapiens_hsa011000.36208252
159Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.35938892
160Colorectal cancer_Homo sapiens_hsa052100.35655819
161Prostate cancer_Homo sapiens_hsa052150.35385629
162Basal transcription factors_Homo sapiens_hsa030220.32721661
163Glycosaminoglycan degradation_Homo sapiens_hsa005310.31791188
164Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31167457
165Ras signaling pathway_Homo sapiens_hsa040140.30802724
166Mineral absorption_Homo sapiens_hsa049780.30287982
167Neurotrophin signaling pathway_Homo sapiens_hsa047220.24383039
168Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.23589237
169Phosphatidylinositol signaling system_Homo sapiens_hsa040700.22667548

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